These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 9159737)

  • 1. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.
    Hanihara T; Inoue K; Kawanishi C; Sugiyama N; Miyakawa T; Onishi H; Yamada Y; Osaka H; Kosaka K; Iwabuchi K; Owada M
    Mov Disord; 1997 May; 12(3):408-11. PubMed ID: 9159737
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Roze E; Vidailhet M; Blau N; Moller LB; Doummar D; de Villemeur TB; Roubergue A
    Mov Disord; 2006 Feb; 21(2):263-6. PubMed ID: 16161143
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
    Oppliger T; Thöny B; Kluge C; Matasovic A; Heizmann CW; Ponzone A; Spada M; Blau N
    Hum Mutat; 1997; 10(1):25-35. PubMed ID: 9222757
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q.
    Tanaka H; Endo K; Tsuji S; Nygaard TG; Weeks DE; Nomura Y; Segawa M
    Ann Neurol; 1995 Mar; 37(3):405-8. PubMed ID: 7695242
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Hereditary progressive levodopa sensible: Segawa's syndrome].
    Grippo J; La Fuente A; Corral SM; Grippo T
    Rev Neurol; 2002 May 16-31; 34(10):933-6. PubMed ID: 12134322
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
    Hirano M; Tamaru Y; Ito H; Matsumoto S; Imai T; Ueno S
    Ann Neurol; 1996 Nov; 40(5):796-8. PubMed ID: 8957022
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Hereditary progressive dystonia with marked diurnal fluctuation--a report of two siblings, one of them showing age-dependent changes of symptoms].
    Iwami O; Kawamura J; Hashimoto S; Suenaga T; Nakamura M
    Rinsho Shinkeigaku; 1990 Sep; 30(9):961-5. PubMed ID: 2265506
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism].
    Segawa M
    Rinsho Shinkeigaku; 1996 Dec; 36(12):1322-3. PubMed ID: 9128393
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
    Thöny B; Blau N
    Hum Mutat; 1997; 10(1):11-20. PubMed ID: 9222755
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Anaesthesia for caesarean section in a patient with dopa-responsive dystonia or Segawa's syndrome.
    Sinha A; Hartsilver EL
    Int J Obstet Anesth; 2009 Jan; 18(1):67-72. PubMed ID: 19022657
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Progressive hereditary dystonia with diurnal fluctuations: report of 2 cases].
    Jalil P; Miranda MC; Frenkel C
    Rev Med Chil; 1993 May; 121(5):557-9. PubMed ID: 7903816
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
    Demos MK; Waters PJ; Vallance HD; Lillquist Y; Makhseed N; Hyland K; Blau N; Connolly MB
    Ann Neurol; 2005 Jul; 58(1):164-7. PubMed ID: 15984017
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dopa responsive dystonia with diurnal fluctuation (Segawa's syndrome).
    Ong LC; Tang SF; Lal TR
    Med J Malaysia; 1994 Jun; 49(2):176-8. PubMed ID: 8090100
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Two siblings of juvenile Parkinson's disease dystonic type (Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa)].
    Ujike H; Nakashima M; Kuroda S; Otsuki S
    Rinsho Shinkeigaku; 1989 Jul; 29(7):890-4. PubMed ID: 2805513
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations].
    Tamaru Y; Ito H; Imai T; Hirano M; Ueno S
    Nihon Rinsho; 1997 Jan; 55(1):135-8. PubMed ID: 9014437
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Segawa disease].
    Nomura Y
    Rinsho Shinkeigaku; 1997 Dec; 37(12):1137-8. PubMed ID: 9577670
    [TBL] [Abstract][Full Text] [Related]  

  • 17. DOPA-sensitive progressive dystonia of childhood with fluctuations of symptoms--Segawa's syndrome and possible variants. Results of a collaborative study of the European Federation of Child Neurology Societies (EFCNS).
    Deonna T
    Neuropediatrics; 1986 May; 17(2):81-5. PubMed ID: 3724992
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Segawa disease.
    Phanthumchinda K; Vichichanyakul M; Yodnophaklao P
    J Med Assoc Thai; 1996 Jul; 79(7):473-6. PubMed ID: 8855628
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.
    Steinberger D; Weber Y; Korinthenberg R; Deuschl G; Benecke R; Martinius J; Müller U
    Ann Neurol; 1998 May; 43(5):634-9. PubMed ID: 9585358
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
    Abeling NG; Duran M; Bakker HD; Stroomer L; Thöny B; Blau N; Booij J; Poll-The BT
    Mol Genet Metab; 2006; 89(1-2):116-20. PubMed ID: 16650784
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.